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Article

Identification of an episignature for the MEF2C-associated syndrome.

European journal of human genetics : EJHG - 1 Jan 2026

Silva Ananília, Haghshenas Sadegheh, van der Laan Liselot, Levy Michael A, Relator Raissa, McConkey Haley, Kerkhof Jennifer, Skinner Steve A, Faivre Laurence, Lespinasse James, Vitobello Antonio, Valenzuela Irene, Scheffer Ingrid E, Russ-Hall Sophie J, Myers Kenneth A, Tedder Matthew L, Sadikovic Bekim, Cooley Coleman Jessica A

Abstract excerpt

Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL), also known as MEF2C-related disorder or MEF2C haploinsufficiency syndrome (MCHS), is a condition caused by pathogenic variants in the Myocyte Enhancer Factor-2C (MEF2C) gene. This study aimed to identify a DNA methylation episignature specific to NEDHSIL and explore its similarities with other known...

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Identifiers

PMID: 41291199
DOI: 10.1038/s41431-025-01983-x
PMCID: PMC12816611

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